Sign in

Sara Carioscia

@saracarioscia.bsky.social
179 followers 393 following 22 posts

Human genetics & evolution | PhD student with Rajiv McCoy at Johns Hopkins | Bikes | scarioscia.github.io

PostsRepliesMedia
Reposted by Sara Carioscia
Arjun Biddanda @aabiddanda.github.io · 04/02/2026
@saracarioscia.bsky.social and I also wrote a more accessible Research Briefing on this work that can be found here! nature.com/articles/d41...
nature.com
Common genetic variants affect risk of a major cause of pregnancy loss
Biopsies from human embryos fertilized in vitro enabled testing of factors that influence risk of abnormal chromosomal number.
021
Reposted by Sara Carioscia
Rajiv McCoy @rajivmccoy.bsky.social · 21/01/2026
Pregnancy loss is common in humans, and chromosomal abnormalities are the leading cause. Using genetic data from ~140,000 IVF embryos, we show that maternal variation in meiosis genes influences recombination and aneuploidy risk. First authors: @saracarioscia.bsky.social & @aabiddanda.github.io
nature.com
Common variation in meiosis genes shapes human recombination and aneuploidy - Nature
Analysis of data from pre-implantation genetic testing sheds light on the genetic basis of meiotic-origin aneuploidy, the leading cause of human pregnancy loss, identifying common genetic variants ass...
112556
Reposted by Sara Carioscia
Matthew Aguirre @aguirre404.bsky.social · 22/08/2025
Thrilled to share the second half of my PhD work here! We show how data on expression quantitative trait loci (eQTL) relates to the structure of gene regulatory networks (GRN). Much of the GRN / eQTL picture is unmapped, but what we do have says a lot… (1/) doi.org/10.1101/2025...
68028
Reposted by Sara Carioscia
Meru Sadhu @merusadhu.bsky.social · 14/07/2025
New paper from my lab! We describe our idea that high-throughput pooled experimental methods – typically used to test thousands of hypotheses at once – also have huge potential to help in “everyday” experiments testing one or a few focused hypotheses. Why? Two reasons: doi.org/10.1093/g3jo...
doi.org
Validate User
1165
Sara Carioscia @saracarioscia.bsky.social · 23/06/2025
It’s done!!! ☺️ @wmata.com
040
Reposted by Sara Carioscia
Vikram Shivakumar @vikramshivakumar.bsky.social · 17/06/2025
Really excited to see this published! To more mum-finding 🍻
2217
Reposted by Sara Carioscia
Vikram Shivakumar @vikramshivakumar.bsky.social · 27/05/2025
Excited to share a new update to Mumemto, scaling MUM and conserved element finding to any size pangenome! Preprint out now w/ @benlangmead.bsky.social. Mumemto scales to the new HPRC v2 release and beyond, and can merge in future assemblies without any recomputation! 1/n
biorxiv.org
Partitioned Multi-MUM finding for scalable pangenomics
Pangenome collections are growing to hundreds of high-quality genomes. This necessitates scalable methods for constructing pangenome alignments that can incorporate newly-sequenced assemblies. We prev...
12715
Sara Carioscia @saracarioscia.bsky.social · 23/05/2025
😭😭🥰🥰
090
Sara Carioscia @saracarioscia.bsky.social · 16/05/2025
I'm defending my PhD next Friday, May 23!(!!!!). I'll be highlighting our work looking at aneuploidy in early human development. If you're interested I'd love to have you join via Zoom (DM me for info) or on the Homewood campus!
2359
Reposted by Sara Carioscia
Arjun Biddanda @aabiddanda.github.io · 15/05/2025
Really cool work from @arun-das.bsky.social on recovering sequence from unmapped reads (even with T2T reference or HPRC pangenomes!). Can recover a decent amount of sequence per individual using these approaches. Check it out!
043
Sara Carioscia @saracarioscia.bsky.social · 15/05/2025
Check out this new work from my friend Arun!! ⬇️
030
Sara Carioscia @saracarioscia.bsky.social · 14/05/2025
Biology of Genomes last week was awesome! Got some ideas in my poster session, met my online friends in real life, and saw a lot of cool new science #bog25
090
Sara Carioscia @saracarioscia.bsky.social · 09/05/2025
Excited for this - visualizing pangenomes!! #bog25
060
Reposted by Sara Carioscia
Vikram Shivakumar @vikramshivakumar.bsky.social · 09/05/2025
Excited to share our latest work on comparing and visualizing multiple genome assemblies to identify conservation and structural variation in pangenomes with Mumemto! Check out poster 250 at #bog25 if you are here. New preprint coming very soon 👀
03414
Sara Carioscia @saracarioscia.bsky.social · 07/05/2025
If you are here at #bog25 please check out my poster (number 87) tonight! 😁 Showing our work on common variation associated with aneuploidy in human embryos
0207
Sara Carioscia @saracarioscia.bsky.social · 30/04/2025
I am FLOORED by this painting of Fig 1 from my PhD project by my labmate @smyan.bsky.social. Thank you Steph ❤️
1100
Sara Carioscia @saracarioscia.bsky.social · 28/04/2025
I had an incredible time at the Mutations in Time and Space conference last week! There were a ton of interesting talks and I so appreciate the engagement with my work. Excited for more! #MITS25
021
Sara Carioscia @saracarioscia.bsky.social · 24/04/2025
Enjoyed giving my talk yesterday at Mutations in Time and Space! Excited for two more days of #MITS25
171
Sara Carioscia @saracarioscia.bsky.social · 18/04/2025
Thanks to my lab mate @aabiddanda.bsky.social for this incredible gift!! I love the @wmata.com seasonal train 🥰🌸
270
Reposted by Sara Carioscia
Arjun Biddanda @aabiddanda.github.io · 07/04/2025
Thrilled to see this work out - its been fascinating to look at statistical genetics in these IVF embryo datasets underlying meiotic aneuploidies and recombination! Joint work led with @saracarioscia.bsky.social. See thread below, thoughts welcome! www.medrxiv.org/content/10.1...
medrxiv.org
Common variation in meiosis genes shapes human recombination phenotypes and aneuploidy risk
The leading cause of human pregnancy loss is aneuploidy, often tracing to errors in chromosome segregation during female meiosis. While abnormal crossover recombination is known to confer risk for ane...
0247
Sara Carioscia @saracarioscia.bsky.social · 07/04/2025
My main PhD work is up! See thread below. I would love to discuss! www.medrxiv.org/content/10.1...
medrxiv.org
Common variation in meiosis genes shapes human recombination phenotypes and aneuploidy risk
The leading cause of human pregnancy loss is aneuploidy, often tracing to errors in chromosome segregation during female meiosis. While abnormal crossover recombination is known to confer risk for ane...
0269
Reposted by Sara Carioscia
Rajiv McCoy @rajivmccoy.bsky.social · 07/04/2025
Aneuploidy is the leading cause of pregnancy loss. In work led by @saracarioscia.bsky.social and @aabiddanda.bsky.social, we reanalyzed genetic testing data from 139,416 IVF embryos to discover variants associated with recombination phenotypes and aneuploidy risk. www.medrxiv.org/content/10.1...
18938
Sara Carioscia @saracarioscia.bsky.social · 02/04/2025
I got the @wmata.com cherry blossom train this morning!!!! 🌸
140
Sara Carioscia @saracarioscia.bsky.social · 12/03/2025
Please, please engage with this call for input! This intersection is so! freakin! dangerous! for pedestrians and cyclists (and even cars!). We drafted responses for you in this post ⬇️⬇️⬇️
042
Sara Carioscia @saracarioscia.bsky.social · 15/01/2025
Sorry I missed your call, I just watched my @wmata.com rewind four times
020
Sara Carioscia @saracarioscia.bsky.social · 14/01/2025
Just edited directly on main on github.com and it.... felt great, as always
010
Reposted by Sara Carioscia
Mike Schatz @mikeschatz.bsky.social · 16/12/2024
Kicking off the 2024 Chromosomes and Chromatin fall symposium with a talk by Sara Carioscia on the Genetic architecture of meiotic recombination and aneuploidy across 145,045 in vitro fertilized embryos. epigenome.jhu.edu
0132
Sara Carioscia @saracarioscia.bsky.social · 11/12/2024
Join us Monday - my talk about genetic associations with aneuploidy in human IVF embryos is at 9:10am, and there are many great talks and posters to follow!
030
Reposted by Sara Carioscia
Rajiv McCoy @rajivmccoy.bsky.social · 09/12/2024
Aneuploidy is the leading cause of pregnancy loss. In our latest study (www.biorxiv.org/content/10.1...) led by undergrad Angela Yang, we used a simulation framework to infer rates of both meiotic (39-43%) and mitotic errors (1-3% per division) that best explain data from human IVF embryo biopsies.
Schematic describing the approximate Bayesian computation approach for inferring rates of meiotic and mitotic error. For each simulation trial, probabilities of meiotic and mitotic error (θ) are each randomly drawn from a uniform distribution ranging from 0 to 1. These values are used to determine the number of cells that will be aneuploid (represented as dark blue in the schematic) versus normal disomic (light blue) in the final embryo. This number is converted to a proportion and then used as input to the Tessera package. For each combination of error parameters (1,000 chosen) and each of three fixed values for dispersal (0, 0.5, 1), 1,000 embryos are generated and biopsied. For each embryo, 8 mitotic divisions are simulated (producing a total of 256 cells), and one 5-cell biopsy is obtained. Using the adaptive method described by Lenormand et al., ABC selects the set of simulations that produce summary statistics (proportions of euploid, mosaic, and aneuploid biopsies) that best reflect the observed biopsy data. The error rates that produced the selected simulations are used to approximate the posterior distributions of these parameters.
1129